Scientists discover 'deafness gene'

Scientists have identified the gene that contributes to one of the most common forms of deafness, leading to hopes that a cure will be found.

Researchers discovered the TGBF 1 gene is responsible for causing abnormal bone growth in the ear - called otosclerosis - which can lead to profound deafness.

According to the Royal National Institute for Deaf People (RNID), the largest charity in the UK for the deaf and hard of hearing, one million people in the UK, or about two per cent of the population, is affected by otosclerosis.

In severe cases this leads to complete deafness, but also causes partial loss of hearing or tinnitus, a constant ringing sound in the ears.

A specialist team in Belgium, led by Melissa Thys, has for the first time discovered the role the TGBF 1 gene plays in causing the debilitating condition.

Identifying the gene means researchers can now look at ways to switch off its actions and prevent the development of deafness.

Mrs Thys, presented the research to the European Society of Human Genetics conference in Nice, said: 'The gene in which the variant is located points to a pathway that contributes to the disease.

'This may be a lead for better form of treatment in the future. Currently the best option is an operation. However, there is often an additional component of hearing loss, which can't be restored by surgery.

'As the gene involved is a growth factor, and the disease manifests itself by the abnormal growth of bone in the middle ear, it may have a large potential for therapy.'

In the study Ms Thys and her team compared 630 patients with otosclerosis with the same number of unaffected controls in Belgium and the Netherlands.

They discovered that a protective variant of TGBF 1 was carried by seven per cent of healthy subjects, compared with only 2.5 per cent from the otosclerosis group.

The data was confirmed in a French group of 457 patients and 497 controls.

Catriona Crombie, of the RNID, said the findings were 'a fantastic breakthrough'.

Nearly nine million people in the UK are hard of hearing, according to the RNID.